Niemann-Pick disease type A

Term ID

DOID:0070111

Synonyms

Definition

A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (2)

References

• GARD:7206
• ICD10CM:E75.2
• OMIM:257200

Ontology

Human Disease   ( DOID:0070111 )